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chr17_81666701_G_T

chr17:81666701 · GRCh38G → Trs1286618401gnomAD AF <0.001%receptor_confirmed
nearest gene · CCDC137 · 35 bp

For a non-coding regulatory variant the nearest gene by distance is frequently not the regulated gene.

Receptor variant-effect scores

PXR
-0.158predicted occupancy decrease
FXR
-0.003small predicted occupancy change
AhR
-0.118predicted occupancy decrease
-1 decrease0+1 increase

Strongest effect: PXR predicted occupancy decrease at p99-scaled -0.158. Impact is small on the receptor-specific p99 scale.

The p99-scaled score divides the raw delta by the receptor-specific 99th percentile of |delta| in the reference peak population, then clips to −1 to 1. It is a comparable effect scale, not a percentile rank. AhR is exploratory, from a single replicate.

Cross-annotations

phyloP conservation
-0.28
gnomAD
AF <0.001%↗
dbSNP
rs1286618401↗
Region tier
receptor_confirmed

Mirrored from ClinVar, GTEx, GWAS Catalog, JASPAR/FIMO, gnomAD and phyloP. See Databases.

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
G→A-0.0420.028-0.035not observed
G→C-0.1380.0130.012not observed
G→T-0.158-0.003-0.118<0.001%

Every possible base substitution at chr17:81666701, each scored independently and shown as p99-scaled scores. The gnomAD column shows which substitution is actually seen in the population versus in silico only. Region confidence is the same for every substitution at this position, so it is shown once in the section below.

Region confidence

In receptor peaks: PXRAhR

Multi receptor overlap: PXR,AhR